Inclusion body myositis – pathomechanism and lessons from genetics

• Authors: Balázs Murnyák , Levente Bodoki , Melinda Vincze , Zoltán Griger , Tamás Csonka , Rita Szepesi , Andrea Kurucz , Katalin Dankó , Tibor Hortobágyi
• Languages of publication: EN

Abstracts

EN

Inclusion body myositis is a rare, late-onset
myopathy. Both inflammatory and myodegenerative
features play an important role in their pathogenesis.
Overlapping clinicopathological entities are the familial
inclusion body myopathies with or without dementia.
These myopathies share several clinical and pathological
features with the sporadic inflammatory disease.
Therefore, better understanding of the genetic basis and
pathomechanism of these rare familial cases may advance
our knowledge and enable more effective treatment
options in sporadic IBM, which is currently considered a
relentlessly progressive incurable disease.

Keywords

EN

sporadic inclusion body myositis; genetics; GNE; DES; VCP; IBMPFD; TDP-43

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2014
• Volume: 10
• Issue: 1

Dates

received

18 - 2 - 2014

online

26 - 2 - 2015

accepted

30 - 1 - 2015

Contributors

author

Balázs Murnyák

• Division of Neuropathology,
  Institute of Pathology

author

Levente Bodoki

• Institute
  of Internal Medicine, Third Department of Internal Medicine,
  Division of Clinical Immunology

author

Melinda Vincze

• Institute
  of Internal Medicine, Third Department of Internal Medicine,
  Division of Clinical Immunology

author

Zoltán Griger

• Institute
  of Internal Medicine, Third Department of Internal Medicine,
  Division of Clinical Immunology

author

Tamás Csonka

• Division of Neuropathology,
  Institute of Pathology

author

Rita Szepesi

• Department of Neurology, University of Debrecen,
  Faculty of Medicine, Debrecen, Hungary

author

Andrea Kurucz

• Division of Neuropathology,
  Institute of Pathology

author

Katalin Dankó

• Institute
  of Internal Medicine, Third Department of Internal Medicine,
  Division of Clinical Immunology

author

Tibor Hortobágyi

• University of Debrecen,
  Faculty of Medicine, Institute of Pathology, Division of Neuropathology,
  4032 Debrecen, Nagyerdei krt. 98. Tel.: + 36 52 255-248;
  e-mail: [e-mail]

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Identifiers

DOI

10.1515/med-2015-0030